Article
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.
Taiwanese journal of obstetrics & gynecology - 1 Aug 2018
Chen Chih-Ping, Lin Shuan-Pei, Chern Schu-Rern, Wu Peih-Shan, Chen Shin-Wen, Lai Shih-Ting, Chuang Tzu-Yun, Chen Wen-Lin, Wang Wayseen
Abstract excerpt
OBJECTIVE: We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features. CASE REPORT: A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor...
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